(Q36966943)

17 August 2017

Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features (English)

1 reference

17 August 2017

0 references

4

Maya Ghoussaini

0 references

Philippe Froguel

24

Philippe Froguel

0 references

Anthony P Goldstone

19

Anthony P Goldstone

1 reference

17 August 2017

Daniel J Peet

15

0 references

Amélie Bonnefond

Amélie Bonnefond

1

0 references

Wim Van Hul

Wim Van Hul

13

0 references

Luc Van Gaal

14

Luc Van Gaal

1 reference

17 August 2017

22

David Meyre

1 reference

17 August 2017

Anne Raimondo

2

1 reference

17 August 2017

Fanny Stutzmann

3

1 reference

17 August 2017

Shwetha Ramachandrappa

5

1 reference

17 August 2017

David C Bersten

6

1 reference

17 August 2017

Emmanuelle Durand

7

1 reference

17 August 2017

Vincent Vatin

8

1 reference

17 August 2017

Beverley Balkau

9

1 reference

17 August 2017

Olivier Lantieri

10

1 reference

17 August 2017

Violeta Raverdy

11

1 reference

17 August 2017

François Pattou

12

1 reference

17 August 2017

Jacques Weill

16

1 reference

17 August 2017

Jennifer L Miller

17

1 reference

17 August 2017

Fritz Horber

18

1 reference

17 August 2017

Daniel J Driscoll

20

1 reference

17 August 2017

John B Bruning

21

1 reference

17 August 2017

Murray L Whitelaw

23

1 reference

17 August 2017

language of work or name

English

0 references

publication date

17 June 2013

1 reference

Journal of Clinical Investigation

17 August 2017

1 reference

17 August 2017

123

1 reference

17 August 2017

3037-3041

1 reference

17 August 2017

7

1 reference

Rare variants in single-minded 1 (SIM1) are associated with severe obesity

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696559

Crystal Structure of the Heterodimeric CLOCK:BMAL1 Transcriptional Activator Complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696559

Separate necdin domains bind ARNT2 and HIF1alpha and repress transcription

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696559

Medical sequencing at the extremes of human body mass

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696559

Adenoviral-mediated modulation of Sim1 expression in the paraventricular nucleus affects food intake.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696559

Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696559

Differential activities of murine single minded 1 (SIM1) and SIM2 on a hypoxic response element. Cross-talk between basic helix-loop-helix/per-Arnt-Sim homology transcription factors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696559

Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696559

Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696559

Profound obesity associated with a balanced translocation that disrupts the SIM1 gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696559

Development of neuroendocrine lineages requires the bHLH-PAS transcription factor SIM1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696559

The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696559

High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696559

Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696559

Studies of the SIM1 gene in relation to human obesity and obesity-related traits.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696559

Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696559

ARNT2 acts as the dimerization partner of SIM1 for the development of the hypothalamus

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23778136

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI68035

1 reference

17 August 2017

1 reference

17 August 2017

1 reference